Open Access
Tableau III
Mutations identifiées chez des patients présentant un TSA dans les hôpitaux de jour de la région ÎIe-de-France. ASD/ID : panel TSA/déficience intellectuelle, WES : exome, RA : récessif autosomique, RLX : récessif lié au sexe, DA : dominant autosomique. ACMG : classification de l’American College of Medical Genetics.
| Patient | Méthode | Gène | Séquence de référence | ADNc et protéine | Zygosité | Transmission | Sexe | classification ACMG | Preuve | Phénotype (MIM number) |
|---|---|---|---|---|---|---|---|---|---|---|
| 35 | ASD/ID panel | ADNP | NM_015339 | c.2499del, p.Val834Serfs*80 | hétérozygote | de novo | M | Pathogenic (Ia) | PVS1, PS2, PM2 | Helsmoortel-van der Aa syndrome (615873) |
| 36 | ASD/ID panel | ADNP | NM_015339 | c.517C>T, p.Arg173* | hétérozygote | de novo | M | Pathogenic (Ia) | PVS1, PS2, PM2 | Helsmoortel-van der Aa syndrome (615873) |
| 37 | ASD/ID panel | ANKRD11 | NM_013275 | c.3542_3543ins23, p.Arg1182Alafs*144 | hétérozygote | de novo | M | Pathogenic (Ia) | PVS1, PS2, PM2 | KBG syndrome (148050) |
| 38 | ASD/ID panel | ARID1B | NM_020732.3 | c.4110G>A, p.His1339Ilefs*77 (b) | hétérozygote | de novo | M | Pathogenic (Ia) | PVS1, PS2, PS1, PM2 | Coffin-Siris syndrome 1 (135900) |
| 39 | WES | ATRX | NM_000489.3 | c.6740A>C, p.His2247Pro | hémizygote | RLX | M | Likely pathogenic (II) | PS1, PM2, PP2,PP3, PP4 | Mental retardation-hypoto- nic facies syndrome, X-linked (309580) |
| 40 | WES | CACNA1E | NM_000721.3 | c.4688A>G, p.Lys1563Arg | hétérozygote | de novo | M | Likely pathogenic (II) | PS2, PM2, PP2, PP3 | Epileptic encephalopathy, early infantile, 69 (618285) |
| 41 | WES | CHD2 | NM_001271.3 | c.2352+1G>A, p.Lys730Asnfs*4 Skip of exon 18 | hétérozygote | de novo | M | Pathogenic (Ia) | PVS1, PS2, PM2 | Epileptic encephalopathy, child- hood-onset (615369) |
| 42 | WES | COG4 | NM_015386.2 | c.15G>A, p.Met5Ile | homozygote | RA | M | Likely pathogenic (V) | PM2, PM3, PP2, PP3, PP4 | Congenital disorder of glycosyla- tion, type IIj (613489) |
| 43 | WES | FOXP1 | NM_032682.5 | c.1541G>A, p.Arg514His | hétérozygote | de novo | F | Likely pathogenic (II) | PS2, PM2, PP2, PP3 | Mental retardation with language impairment and with or without autistic features (613670) |
| 44 | ASD/ID panel | FOXP1 | NM_032682.5 | c.1541G>A, p.Arg514His | hétérozygote | de novo | F | Likely pathogenic (II) | PS2, PM2, PP2, PP3 | Mental retardation with language impairment and with or without autistic features (613670) |
| 45 | WES | GNAO1 | NM_020988.2 | c.736G>A, p.Glu246Lys | hétérozygote | de novo | F | Pathogenic (II) | PS2, PS1, PM2, PP2, PP3, PP4 | Epileptic encephalopathy, early infantile 17 (615473) |
| 46 c | ASD/ID panel | GRIA3 | NM_000828 | c.504del, p.Glu168Aspfs*21 | hémizygote | RLX | M | Pathogenic (Ib) | PVS1, PM2, PP1-M | Mental retardation, X-linked 94 (300699) |
| 47 c | ASD/ID panel | GRIA3 | NM_000828 | c.504del, p.Glu168Aspfs*21 | hémizygote | RLX | M | Pathogenic (Ib) | PVS1, PM2, PP1-M | Mental retardation, X-linked 94 (300699) |
| 48 | ASD/ID panel | GRIA3 | NM_000828 | c.1990C>G, p.Pro664Ala | hémizygote | RLX | M | Likely pathogenic (II) | PS1, PM2, PP2, PP3, PP4 | Mental retardation, X-linked 94 (300699) |
| 49 | ASD/ID panel | GRIN2B | NM_000834.4 | c.2087G>A, p.Arg696His | hétérozygote | de novo | F | Pathogenic (II) | PS2, PS1, PM2, PP2, PP3, PP4 | Mental retardation, autosomal dominant 6 (613970) |
| 50 | ASD/ID panel | GRIN2B | NM_000834.4 | c.2084T>C, p.Ile695Thr | hétérozygote | de novo | M | Pathogenic (II) | PS2, PS1, PM2, PP2, PP3, PP4 | Mental retardation, autosomal dominant 6 (613970) |
| 51 | ASD/ID panel | HUWE1 | NM_031407.6 | c.1736A>C, p.Asn579Thr | hémizygote | RLX | M | Likely pathogenic (II) | PS1, PM2, PP2, PP3, PP4 | Mental retardation, X-linked syn- dromic (300706) |
| 52 | Epilepsy panel | IQSEC2 | NM_001111125.2 | c.2272C>T, p.Arg758* | hétérozygote | de novo | F | Pathogenic (Ia) | PVS1, PS2, PM2 | Mental retardation, X-linked 78 (309530) |
| 53 | WES | KCNB1 | NM_004975.2 | c.128A>G, p.Glu43Gly | hétérozygote | de novo | M | Likely pathogenic (II) | PS2, PM2, PP3, PP2 | Epileptic encephalopathy, early infantile 26 (616056) |
| 54 | ASD/ID panel | KDM6A | NM_021140.3 | c.2944G>T, p.Gly982* | hétérozygote | de novo | M | Pathogenic (Ia) | PVS1, PS2, PM2 | Kabuki syndrome 2 (300867) |
| 55 | WES | LINS1 | NM_001040616.2 | c.1921del, p.Glu641Serfs*4 | homozygote | RA | M | Likely pathogenic (V) | PM2, PM3, PP2, PP3, PP4 | Mental retardation, autosomal recessive 27 (614340) |
| 56 | ASD/ID panel | MED13L | NM_015335.4 | c.1708_1709del, p.Ser570Phefs*27 | hétérozygote | de novo | F | Pathogenic (Ia) | PVS1, PS2, PM2 | Mental retardation et distinctive facial features with or without cardiac defects (616789) |
| 57 | ASD/ID panel | MYT1L | NM_015025.3 | c.1579G>C, p.Gly527Arg | hétérozygote | de novo | F | Pathogenic (II) | PS2, PS1, PM2, PP2, PP3, PP4 | Mental retardation, autosomal dominant 39 (616521) |
| 58 | ASD/ID panel | NAA10 | NM_003491.3 | c.236G>A, p.Arg79His | hétérozygote | de novo | M | Likely pathogenic (II) | PS2, PM2, PP2, PP3 | Ogden syndrome (300855) |
| 59 | WES | PHF6 | NM_032458.2 | c.385C>T, p.Arg129* | hétérozygote | de novo | F | Pathogenic (Ia) | PVS1, PS2, PM2 | Borjeson-Forssman-Lehmann syn- drome (301900) |
| 60 | WES, Epile- psy panel | RORB | NM_006914.3 | c.640C>T, p.Arg214* | hétérozygote | de novo | F | Pathogenic (Ia) | PVS1, PS2, PM2 | Susceptibility to idiopathic gene- ralized epilepsy-15 (618357) |
| 61 | ASD/ID panel | SHANK3 | NM_033517.1 | c.5021G>A, p.Gly1674Asp | hétérozygote | DA | M | Likely pathogenic (II) | PP1-S, PM2, PP2, PP3, PP4 | Phelan-McDermid syndrome (606232) |
| 62 | ASD/ID panel | SHANK3 | NM_033517.1 | c.3679dup, p.(Ala1227Glyfs*69) | hétérozygote | de novo | M | Pathogenic (Ia) | PVS1, PS2, PM2 | Phelan-McDermid syndrome (606232) |
| 63 | ASD/ID panel | SLC6A1 | NM_003042 | c.752T>C, p.Leu251Pro | hétérozygote | de novo | F | Likely pathogenic (II) | PS2, PM2, PP3,PP2 | Myoclonic-atonic epilepsy (616421) |
| 64 | Epilepsy panel | STXBP1 | NM_003165.3 | c.87+1G>T, p.? | hétérozygote | de novo | M | Pathogenic (Ia) | PVS1, PS2, PM2 | Epileptic encephalopathy, early infantile, 4 (612164) |
| 65 | ASD/ID panel | SZT2 | NM_015284.3 | c.1261+1G>A, p.? c.6113A>G, p.Tyr2038Cys | hétérozygote composite | RA | F | Likely pathogenic (V) | PVS1, PM2, PM3, PP2, PP3, PP4 | Epileptic encephalopathy, early infantile 18 (615476) |
| 66 | ASD/ID panel | TLK2 | NM_006852.3 | c.1015C>T, p.Arg339Trp | hétérozygote | de novo | M | Pathogenic (II) | PS2, PS1, PM2, PP2, PP3, PP4 | Mental retardation, autosomal dominant 57 (618050) |
| 67 | WES | TUSC3 | NM_006765.3 | c.787_788insC, p.Asn263Thrfs* | homozygote | RA | M | Pathogenic (Ib) | PVS1, PM2, PM3, PP2 | Mental retardation, autosomal recessive 7 (611093) |
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